Variant report

Variant	rs1432971
Chromosome Location	chr5:147273924-147273925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12171506	0.83[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1432973	0.92[AFR][1000 genomes]
rs1549204	0.84[LWK][hapmap];0.94[MKK][hapmap]
rs17107421	0.91[AFR][1000 genomes]
rs17717793	0.90[ASN][1000 genomes]
rs2288780	0.82[ASN][1000 genomes]
rs2288781	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580504	0.81[EUR][1000 genomes]
rs6580505	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6859774	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6865419	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6889356	0.90[EUR][1000 genomes]
rs6890965	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7709303	0.92[MKK][hapmap]
rs7715834	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv329560	chr5:147269326-147278710	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147262800-147275600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:147271400-147274200	Enhancers	Hela-S3	cervix
3	chr5:147271600-147274600	Enhancers	HUVEC	blood vessel
4	chr5:147272000-147275200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:147272200-147274000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:147272200-147274200	Enhancers	NHEK	skin
7	chr5:147272800-147278400	Weak transcription	Stomach Mucosa	stomach
8	chr5:147272800-147279600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:147273000-147278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:147273000-147280600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:147273200-147278000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:147273200-147280400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:147273400-147275000	Weak transcription	Placenta	Placenta
14	chr5:147273400-147275200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:147273400-147276800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:147273400-147277400	Weak transcription	NH-A	brain
17	chr5:147273400-147278200	Weak transcription	Osteobl	bone
18	chr5:147273400-147278800	Weak transcription	Aorta	Aorta
19	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
20	chr5:147273600-147274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:147273600-147277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:147273800-147277800	Weak transcription	HMEC	breast

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